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dbVar

Database of genomic structural variation

nsv6314306

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(1;4)(q21.3;p15.2)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 104 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):164,799,626-164,799,626

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314306	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	164,799,626	164,799,626	+
nsv6314306	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	164,799,656	164,799,656	-
nsv6314306	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	11,160,052	11,160,052	-
nsv6314306	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	11,160,057	11,160,057	+
nsv6314306	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	164,768,863	164,768,863	+
nsv6314306	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	164,768,893	164,768,893	-
nsv6314306	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	11,161,676	11,161,676	-
nsv6314306	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	11,161,681	11,161,681	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975956	interchromosomal translocation	Multiple	Multiple	Autistic behavior; Autistic behavior; Delayed speech and language development; Delayed speech and language development; Expressive language delay; Expressive language delay; Global developmental delay; Global developmental delay; Impaired social interactions; Impaired social interactions; Limited shoulder movement; Limited shoulder movement; Receptive language delay; Receptive language delay	Likely pathogenic	ClinVar	RCV000258750.1, VCV000267901.1
nssv17975957	interchromosomal translocation	Multiple	Multiple	Autistic behavior; Autistic behavior; Delayed speech and language development; Delayed speech and language development; Expressive language delay; Expressive language delay; Global developmental delay; Global developmental delay; Impaired social interactions; Impaired social interactions; Limited shoulder movement; Limited shoulder movement; Receptive language delay; Receptive language delay	Likely pathogenic	ClinVar	RCV000258750.1, VCV000267901.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975956	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	164,799,626	164,799,626	+
nssv17975957	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	164,799,656	164,799,656	-
nssv17975956	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	11,160,052	11,160,052	-
nssv17975957	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	11,160,057	11,160,057	+
nssv17975956	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	164,768,863	164,768,863	+
nssv17975957	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	164,768,893	164,768,893	-
nssv17975956	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	11,161,676	11,161,676	-
nssv17975957	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	11,161,681	11,161,681	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975956	interchromosomal translocation	de novo	Autistic behavior; Autistic behavior; Delayed speech and language development; Delayed speech and language development; Expressive language delay; Expressive language delay; Global developmental delay; Global developmental delay; Impaired social interactions; Impaired social interactions; Limited shoulder movement; Limited shoulder movement; Receptive language delay; Receptive language delay	Likely pathogenic	ClinVar	RCV000258750.1, VCV000267901.1
nssv17975957	interchromosomal translocation	de novo	Autistic behavior; Autistic behavior; Delayed speech and language development; Delayed speech and language development; Expressive language delay; Expressive language delay; Global developmental delay; Global developmental delay; Impaired social interactions; Impaired social interactions; Limited shoulder movement; Limited shoulder movement; Receptive language delay; Receptive language delay	Likely pathogenic	ClinVar	RCV000258750.1, VCV000267901.1

No genotype data were submitted for this variant

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